POLG2 (DNA polymerase gamma 2, accessory subunit)

2003-12-01  

Identity

HGNC
POLG2
LOCATION
17q23.3
LOCUSID
11232
ALIAS
HP55,MTDPS16,MTPOLB,PEOA4,POLB,POLG-BETA,POLGB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11232
MIM: 604983
HGNC: 9180
Ensembl: ENSG00000256525

Variants:

dbSNP: 11232
ClinVar: 11232
TCGA: ENSG00000256525
COSMIC: POLG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000256525ENST00000539111Q9UHN1
ENSG00000256525ENST00000539111E5KS15
ENSG00000256525ENST00000578997J3QRU9
ENSG00000256525ENST00000581355J3KRM2

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
DNA polymerase gamma complexKEGGhsa_M00294
DNA polymerase gamma complexKEGGM00294
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
370856012024POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.1
370856012024POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.1
375927342023Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.3
375927342023Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.3
324706142020The accessory subunit of human DNA polymerase γ is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit.4
330872822020Consequences of compromised mitochondrial genome integrity.22
324706142020The accessory subunit of human DNA polymerase γ is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit.4
330872822020Consequences of compromised mitochondrial genome integrity.22
301572692018Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.7
301572692018Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.7
264033172016Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer.3
275921482016Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.15
264033172016Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer.3
275921482016Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.15
245249652014Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians.0

Citation

Dessen P

POLG2 (DNA polymerase gamma 2, accessory subunit)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41775/polg2-(dna-polymerase-gamma-2-accessory-subunit)